| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381989 |
| Start |
24494668:24494668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Glu216Lys(p.E216K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381989 |
| Start |
24469094:24469094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2063A>T |
| AA Mutation |
p.Glu688Val(p.E688V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381989 |
| Start |
24499370:24499370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139683851
|
| CDS Mutation |
c.408T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |